A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome.
Dougarem D, Chen YX, Sun YN, Huang HF, Luo Q., Free PMC Article

[Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome].
Liu Y, Chen TH, Jiang YX.

Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population.
Zhao Q, Zhou N, Wu Q, Zhang K, Yue J, Zheng D, Wang Y, Xiao Y, Li R, Cheng R, Quan L, Huang E, Hu B, Cheng J.

Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.
Bai Y, Sun Y, Yu C, Xia Y, Wu J, Wang L, Gao Y, Tu X, Kong X., Free PMC Article

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Arnaud P, Mougin Z, Baujat G, Drouin-Garraud V, El Chehadeh S, Gouya L, Odent S, Jondeau G, Boileau C, Hanna N, Le Goff C., Free PMC Article

The correlation between serum asprosin and left ventricular diastolic dysfunction in elderly patients with type 2 diabetes mellitus in the community.
Liang D, Shi G, Xu M, Yin J, Liu Y, Yang J, Xu L., Free PMC Article

The mediation effect of asprosin on the association between ambient air pollution and diabetes mellitus in the elderly population in Taiyuan, China.
Song L, Gao Y, Tian J, Liu N, Nasier H, Wang C, Zhen H, Guan L, Niu Z, Shi D, Zhang H, Zhao L, Zhang Z.

[Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene].
Yu M, Liu X, Ran N, Yang Z, Shan Y.

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.
Lu X, Wang R, Li M, Zhang B, Rao H, Huang X, Chen X, Wu Y., Free PMC Article

Role of asprosin and meteorin-like peptide in progression of actinic keratosis to squamous cell carcinoma.
Inan Yuksel E, Cicek D, Demir B, Kocaman N, Calik I, Kuloglu T.

Association of serum asprosin with metabolic dysfunction-associated fatty liver disease in older adult type 2 diabetic patients: a cross-sectional study.
Cui J, Liu Y, Li M, Yin J, Yang J, Xu L., Free PMC Article

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.
Kim SW, Kim B, Kim Y, Lee KA., Free PMC Article

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.
Kim JA, Jang MA, Jang SY, Kim DK, Kim YG, Kim JW, Park TK, Jang JH., Free PMC Article

Salivary and serum asprosin hormone levels in the 2018 EFP/AAP classification of periodontitis stages and body mass index status: a case-control study.
Gül SNS, Eminoğlu DÖ, Laloğlu E, Aydın T, Dilsiz A., Free PMC Article

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Klemenzdottir EO, Arnadottir GA, Jensson BO, Jonasdottir A, Katrinardottir H, Fridriksdottir R, Jonasdottir A, Sigurdsson A, Gudjonsson SA, Jonsson JJ, Stefansdottir V, Danielsen R, Palsdottir A, Jonsson H, Helgason A, Magnusson OT, Thorsteinsdottir U, Bjornsson HT, Stefansson K, Sulem P., Free PMC Article

Presence of microfibril associated glycoprotein 4 and type V collagen and the possible absence of fibrillin-1 in bead-like structures in elastofibroma.
Nishida H, Sasaki T, Taga Y, Murasawa Y, Simizu S, Matsushita S, Isogai Z, Hattori S, Daa T, Nagamine N, Sekine A, Fujiwara S.

EVALUATION OF FETUIN-A LEVEL IN POLYCYSTIC OVARY SYNDROME AND ITS ASSOCIATION WITH ASPROSIN AND SOME BIOCHEMICAL PARAMETERS.
Mahmmoed B, Hilal N, Sarhat E.

Evaluation of the relationship between neonatal serum asprosin levels and anthropometric measurements in newborns of mothers with and without gestational diabetes mellitus.
Yalınbaş EE, Akcılar R.

Betatrophin, elabela, asprosin, glucagon and subfatin peptides in breast tissue, blood and milk in gestational diabetes.
Yavuz A, Aydin MA, Ugur K, Aydin S, Senol A, Baykus Y, Deniz R, Sahin İ, Yalcin MH, Gencer BT, Deniz YK, Ustebay S, Karagoz ZK, Emre E, Aydin S.

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
Buki G, Szalai R, Pinter A, Hadzsiev K, Melegh B, Rauch T, Bene J., Free PMC Article

[Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].
Liu X, Yang M, Xie H, Zhao Q, Xu B, Xiao X, Tan Y, Liu S.

Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome.
Helm BM, Smith AM, Schmit K, Landis BJ, Vatta M, Ware SM., Free PMC Article

Clinical and genetic findings in Chinese families with congenital ectopia lentis.
Liu X, Niu L, Zhang L, Jiang L, Liu K, Wu X, Liu X, Wang J., Free PMC Article

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Guo DC, Duan X, Mimnagh K, Cecchi AC, Marin IC, Yu Y, Velasco WV, Lee K, Zhu X, Murdock DR, Leal SM, Wheeler MM, Smith J, Bamshad MJ, Milewicz DM., Free PMC Article

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC., Free PMC Article